Ataxin-3 - CISMeF

Preferred Label : Ataxin-3;

MeSH definition : A DEUBIQUITINASE involved in protein homeostasis, transcription, cytoskeleton regulation, and myogenesis. It also acts as a histone-binding protein that represses transcription. CAG repeat expansions in the ATXN3 gene coding region are associated with SPINOCEREBELLAR ATAXIA 3 (SCA3).; A deubiquitinating enzyme of the ATAXINS family. It functions in protein homeostasis, GENETIC TRANSCRIPTION; CYTOSKELETON regulation, and MYOGENESIS. CAG TRINUCLEOTIDE REPEAT EXPANSION in the Ataxin-3 gene coding region is associated with spinocerebellar ataxia-3 (MACHADO-JOSEPH DISEASE).;

MeSH synonym : Ataxin 3; SCA3 Protein; Ataxin-3 Protein; Ataxin 3 Protein; Machado-Joseph Disease Protein; Machado Joseph Disease Protein; Spinocerebellar Ataxia 3 Protein; ATXN3 Protein;

CISMeF synonym : Disease Protein, Machado-Joseph; Protein, ATXN3; Protein, Ataxin-3; Protein, Machado-Joseph Disease; Protein, SCA3;

Registry Number MeSH : EC 3.4.19.12;

Wikipedia link : https://en.wikipedia.org/wiki/Ataxin-3;

UNII : EC 3.4.19.12;

Details

Origin ID

D000067699;

UMLS CUI

C4019432;

Allowable qualifiers
- administration and dosage [MeSH Qualifier]
- adverse effects [MeSH Qualifier]
- agonists [MeSH Qualifier]
- analysis [MeSH Qualifier]
- antagonists and inhibitors [MeSH Qualifier]
- biosynthesis [MeSH Qualifier]
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemical synthesis [MeSH Qualifier]
- chemistry [MeSH Qualifier]
- classification [MeSH Qualifier]
- contraindications [MeSH Qualifier]
- deficiency [MeSH Qualifier]
- drug effects [MeSH Qualifier]
- economics [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- isolation and purification [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- pharmacokinetics [MeSH Qualifier]
- pharmacology [MeSH Qualifier]
- physiology [MeSH Qualifier]
- poisoning [MeSH Qualifier]
- radiation effects [MeSH Qualifier]
- standards [MeSH Qualifier]
- supply and distribution [MeSH Qualifier]
- therapeutic use [MeSH Qualifier]
- toxicity [MeSH Qualifier]
- ultrastructure [MeSH Qualifier]
- urine [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Ataxin 3 [OMIM gene]
- ataxin 3 [HGNC gene]
Currated CISMeF NLP mapping
- ataxin 3 [ORDO Gene]
Record concept(s)
- Ataxin-3 [MeSH concept]
Related MeSH Supplementary Concept(s)
- ATXN3 protein, human [MeSH Supplementary Concept]
- Atxn3 protein, mouse [MeSH Supplementary Concept]
- Atxn3 protein, rat [MeSH Supplementary Concept]
- atx-3 protein, C elegans [MeSH Supplementary Concept]
See also
- spinocerebellar ataxias [MeSH Descriptor]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
UMLS correspondences (same concept)
- ataxin 3 [ORDO Gene]

Keyword's position in hierarchy(ies) :

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